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Hirschsprung’s disease is a disorder present from birth that is characterised by an obstruction of the large intestine or colon caused by uncoordinated muscular movement of the bowel.


  • What is Hirschsprung's disease?
  • How is it caused?
  • How common is the disease?
  • What are the symptoms?
  • How is the condition diagnosed?
  • What is the treatment?

What is Hirschsprung's disease?

Hirschsprung’s disease is a disorder present from birth that is characterised by an obstruction of the large intestine or colon caused by uncoordinated muscular movement of the bowel.

How is it caused?

It is caused by the absence of nerve cells in the wall of the bowel. A collection of nerve cells called ganglia, stimulate the rhythmic contraction which moves the material through the bowel (peristalsis). In the absence of these cells, the bowel wall fails to relax ahead of a peristaltic wave and stools cannot pass forward. Bowel contents build up behind the obstruction. The ganglia cells may be absent from only a short segment of the large intestine or they may be absent from all of it.

How common is the disease?

Hirschsprung’s disease is a rare disease occurring once in every 5000 births. Males are more likely to be affected than females, in a ratio of 4:1.

What are the symptoms?

  • Failure to pass meconium (greenish sticky substance that is a newborn’s first bowel movement) shortly within 24-48 hours after birth.
  •  Constipation.
  •  Abdominal distention.
  •  Vomiting.
  •  Watery diarrhoea.
  •  Poor weight gain.
  •  Slow growth rate.

How is the condition diagnosed?

A physical examination shows a bulging abdomen with loops of bowel that can be felt. Other tests used in the diagnosis include:

  •  Abdominal X-ray, showing distention of the large intestine.
  •  Barium enema, to identify the collapsed segment of the bowel.
  •  Rectal biopsy or tissue sample from the rectum may be done to confirm the absence of ganglion cells.

What is the treatment?

Depending upon the child's weight, age and diagnosis, a temporary colostomy may be performed initially. This is a surgical procedure in which an opening of the colon to the body wall to relieve the bowel obstruction is made. Removal of the affected bowel segment and reconnection of the colon is usually performed when the infant is aged 6 months or older. Other supportive measures include rehydration with intravenous fluids and correction of electrolyte and nutritional abnormalities, if present.
 

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